| Entrez Gene ID | 590 |
|---|---|
| Official Gene Symbol | BCHE (GeneCards) |
| Full name | butyrylcholinesterase |
| Location | 3q26.1 |
| Other ids | Vega : OTTHUMG00000158131 MIM : 177400 HGNC : HGNC:983 Ensembl : ENSG00000114200 |
| Other names | E1, CHE1, CHE2, BCHED |
| Summary | This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016] |
Found 15 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 4652 | 590 | BCHE | 3 | 166447330 | 166447330 | Asymptomatic | HiSeq X Ten |
| 4689 | 590 | BCHE | 3 | 166598819 | 166598819 | Asymptomatic | HiSeq X Ten |
| 5004 | 590 | BCHE | 3 | 165527523 | 165527523 | Asymptomatic | HiSeq X Ten |
| 5105 | 590 | BCHE | 3 | 166118774 | 166118774 | Asymptomatic | HiSeq X Ten |
| 5222 | 590 | BCHE | 3 | 165848527 | 165848527 | HiSeq X Ten | |
| 5254 | 590 | BCHE | 3 | 165992943 | 165992943 | Asymptomatic | HiSeq X Ten |
| 5255 | 590 | BCHE | 3 | 166235683 | 166235683 | Asymptomatic | HiSeq X Ten |
| 5380 | 590 | BCHE | 3 | 166040655 | 166040655 | Asymptomatic | HiSeq X Ten |
| 5440 | 590 | BCHE | 3 | 165555698 | 165555698 | Asymptomatic | HiSeq X Ten |
| 5441 | 590 | BCHE | 3 | 165775461 | 165775461 | Asymptomatic | HiSeq X Ten |
| 5442 | 590 | BCHE | 3 | 166090950 | 166090950 | Asymptomatic | HiSeq X Ten |
| 5533 | 590 | BCHE | 3 | 166199015 | 166199015 | Asymptomatic | HiSeq X Ten |
| 5863 | 590 | BCHE | 3 | 166768542 | 166768542 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22718 | 590 | BCHE | 3 | 166560621 | 166560621 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25380 | 590 | BCHE | 3 | 165794999 | 165794999 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |